Canonical Allele Identifier: CA1825861431

Gene: NAPRT

Linked Data

• dbSNP Id: rs1409993090
• gnomAD v4: 8-143575401-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575407dup , CM000670.2:g.143575407dup	GRCh38
NC_000008.10:g.144657577dup , CM000670.1:g.144657577dup	GRCh37
NC_000008.9:g.144728720dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1291+21dup MANE Select	ENSP00000401508.2:n.1291+21dup
ENST00000340490.7:c.1291+21dup	ENSP00000341136.3:n.1291+21dup
ENST00000426292.7:c.1291+21dup	ENSP00000390949.3:n.1291+21dup
ENST00000435154.7:c.1291+21dup	ENSP00000405670.3:n.1291+21dup
ENST00000449291.6:c.1291+21dup	ENSP00000401508.2:n.1291+21dup
ENST00000460623.5:c.269+21dup
ENST00000464332.5:n.835+21dup
ENST00000498076.5:n.14dup
NM_001286829.1:c.1291+21dup	NP_001273758.1:n.1291+21dup
NM_145201.5:c.1291+21dup	NP_660202.3:n.1291+21dup
XM_011517377.1:c.1291+21dup	XP_011515679.1:n.1291+21dup
NM_001363145.1:c.1210+21dup	NP_001350074.1:n.1210+21dup
NM_001363146.1:c.607+21dup	NP_001350075.1:n.607+21dup
XM_017013975.2:c.1510+21dup	XP_016869464.1:n.1510+21dup
XM_017013976.2:c.1510+21dup	XP_016869465.1:n.1510+21dup
XM_017013977.2:c.1210+21dup	XP_016869466.1:n.1210+21dup
XM_017013978.2:c.1510+21dup	XP_016869467.1:n.1510+21dup
XM_017013979.2:c.607+21dup	XP_016869468.1:n.607+21dup
XM_024447332.1:c.928+21dup	XP_024303100.1:n.928+21dup
XM_024447333.1:c.526+21dup	XP_024303101.1:n.526+21dup
NM_145201.6:c.1291+21dup MANE Select	NP_660202.3:n.1291+21dup
NM_001286829.2:c.1291+21dup	NP_001273758.1:n.1291+21dup